Down's syndrome1 is a genetic condition, and is the most frequently encountered chromosomal disorder. The extra chromosome affects physical appearance, as well as the ability to learn and develop mentally.
Around 1 in 1,000 live born infants in the UK has Down's syndrome, and there is a strong correlation of incidence to the age of the mother, rising very sharply in mothers over the age of 402. It is found in all races, though is less common in Chinese and African people. It happens in all socio-economic groups, though a lower incidence in more well-off families can be explained by the higher frequency of antenatal testing. It is determined by the chromosomes in the egg at conception, so it is not the result of any event during pregnancy.
The actual number of live Down's births in the UK has increased very slightly3 in recent years, prompting observers including the BBC to suggest that our society was showing evidence of becoming more caring and accepting. However, an analysis of the statistics disputes that proposition, and points instead to the rising average age of mothers. In 1989, 6% of pregnant women were over 35. By 2006 that had risen to 15%. Thus there are more children with Down's being born simply because older mothers means more foetuses with Down's being created. However, the majority of babies with Down's Syndrome are born to young women.
A Child with Down's
In common with many other disabilities, much stereotyping attaches to Down's. Immediate reactions often start with sympathy and regret, typically expressed along the lines of Poor you, it must be so awful for you, whilst the popular impression is often of an affectionate, stubborn, good, happy and musical child: Down's kids are so lovable, always full of smiles and hugs.
Parenting a child with a disability demands much emotional and often financial cost, but it is not the end of the world, nor does one have to be a living saint in order to do it successfully. That said, there is a high level of stress experienced by parents, and some do find it hard to cope — good support networks and respite care are vital.
Most parents will only learn of their child's condition shortly after birth: there may be few visible signs apparent, and even if doctors do suspect Down's, confirmatory tests take time to complete. The initial reaction of parents is understandably one of shock. Counselling and trusted advice are crucial at this stage in accepting the unexpected. Some may see their child as a gift from God, whilst others find that the notion of a god who could let such a thing happen tests their faith to breaking point. Some don't think this God fella had anything to do with it, and look to science and statistical likelihoods to explain what has happened.
As the child grows up, support continues to be provided from a varied team of professionals, including GP, paediatrician, health visitors, and social workers. Regular checks on growth, hearing, sight and often the thyroid, are carried out throughout childhood. Physiotherapists help with motor skills, and speech therapists assist children in communicating more easily. Young children become frustrated when they want to say something but cannot, and the use of Makaton, a simple sign-language, can be an effective way of allowing children to get their message across. The sheer volume of knowledge and advice can be bewildering, covering not only education and health matters, but also practical things like dealing with social services. There are a number of voluntary support networks such as the Down's Syndrome Association, which provides a valuable service to the families and carers, including the sharing of practical advice as well as empathetic listening.
We learned quickly that families are the experts with regard to their sons and daughters — because they had to be.For many new parents, being able to talk face-to-face with others who have been through and are going through the same experiences reassures them of their own capabilities, and meeting older children can show them the potential in their own child.
– National Association for Down Syndrome
Who are you Calling Normal?
The milestone choice of which school to send the child to is a complicated one. The decision on the best school for each child should take into consideration their individual abilities, and the facilities that each educational establishment can offer. Children with Down's have varying degrees of learning disability, ranging from moderate to severe. Mainstream schools can provide, with suitable support, the opportunity to attend the same local school as their siblings and peers. Educational authorities assess the needs of each child, and can issue a 'statement' setting out what those needs are, and what the school can do to meet them.
For most pupils with Down's this will mean a full-time dedicated classroom assistant. However, the pupil-teacher ratio in mainstream schools is often high, especially when compared to that in special schools, and since many children with Down's have hearing difficulties, the sheer volume of noise and activity in a large class can make it hard to concentrate. In addition, the mainstream school may only be available to the child until they reach the age of 16, after which he or she can be left unsupported.
Special schools, on the other hand, provide education for children with moderate-to-severe learning difficulties. These schools are well equipped with specialist technological tools and materials, and professionally-trained staff, including physiotherapists, speech therapists and nurses, are on hand. This means that many treatments and therapies can be given without the need to leave the school.
Many parents regard their special school as a safe haven of acceptance away from the pointing and staring, and even bullying, that they encounter elsewhere; however, their nearest special school is often some distance away, and so transport is a further issue that must be taken into consideration. Children can continue at a special school until they are 19.
Social interaction with others is important for all children's development, especially children with Down's. They need to learn how to share and take turns, as there is a danger of grandparents and other relatives spoiling them or ignoring age-inappropriate behaviour. Outside school, physical and creative activities stimulate individual interests, and help the child develop towards adulthood. In the UK, the Disability Discrimination Act 1995 applies to everyone who provides a service to the public, and requires reasonable adjustments to be made in order to be accessible to all.
Other people's reactions can be difficult to deal with. Parents get fed up being asked if they had the test during pregnancy, and its inevitable, agonising, and unanswerable supplementary question: 'What would you have done if you'd known?' If the physical signs in the child are not immediately obvious, passers-by may stare at a hefty six-year-old being wheeled about in a pram, and wonder aloud: 'What's wrong with her?'
Everyone is different. Everyone with Down's is different, and Down's is only a part of who they are. Children with Down's are more like other children than they are different, and are as susceptible to frustration and sadness as any of their peers. Undoubtedly having a child with Down's is more challenging than a typical youngster, and the challenges are as unique as the child.
But they're less likely to be expelled from school, or experiment with drugs, alcohol or gambling. Measured on standard IQ ranges, children with Down's may not score highly, but these don't measure many important areas of intelligence such as memory, insight and creativity. Every child needs attention and love, and a positive focus on their abilities and what they can achieve, rather than what they can't.
Do you know what? He brings out the best in everyone else.
– The father of a child with Down's
From Institution to Inclusion
Attitudes of society to babies born with this condition have changed markedly over the years, as better understanding of disabilities of all kinds results from more research. A generation ago, children with Down's were largely institutionalised, schooled and often housed away from their families, and frequently given up for adoption. Nowadays, educating children of all abilities together is encouraged, and as more children with Down's attend their local Primary School, at least for the first few years, they become more visible members of society. On leaving school, support is still required to varying degrees, but some go on to semi-independent living and working.
Acceptance increases with visibility, so the portrayal of people with Down's in the media is highly influential. In an EastEnders plotline, baby Janet Mitchell is born with Down's and her mother is shown struggling to come to terms with this fact. Mencap praised this storyline as an opportunity to improve awareness of the condition, although other organisations criticised some of the aspects of the birth.
Craig Phillips, the winner of the first UK Big Brother series in 2000, had tried to keep secret his intention to give the prize money to his lifelong friend, Joanne Harris. Joanne needed a heart and lung transplant, but did not meet the criteria to be put on the waiting list in the UK, and Craig hoped to raise money for her to have the operation carried out in the US. News of his noble aspiration leaked out to the press, resulting in a huge sympathy vote going Craig's way. Joanne later found that she was unsuitable for the operation, and she died in 2008, aged 25, from an infection. During her life she helped to raise awareness of discrimination against people with Down's in the health service.
There is quite properly outrage when vulnerable members of society such as people with Down's are the victims of abuse, whether that be two policemen dressing up a teenager with Down's in their uniforms and having him wander round town 'for a laugh', or Al-Qaeda allegedly using young girls with Down's as suicide bombers in Baghdad.
There is no prevention or cure for Down's, but it can be identified during ante-natal testing. Initial tests involve screening, most commonly a blood sample from the mother, or an ultrasound scan. Further tests may be offered if this scan shows anything unusual, or if the age of the mother is a factor, or there are other indicators. These additional tests are diagnostic, and include Chorionic Villus Sampling (CVS), and amniocentesis.
There is no risk associated with screening tests, but the results are not very reliable, having a large incidence of false positives and false negatives. Diagnostic tests are very accurate, but they involve removing material from the amniotic fluid or from the placenta, and this invasiveness carries a risk of miscarriage of around 1-2%.
Whilst a new, non-invasive maternal blood test is still being developed which will give more accurate results, all mothers-to-be currently have to face the choice of whether to accept this risk, or accept a degree of uncertainty as to their baby's condition. Amniocentesis is carried out between the 15th and 18th week of pregnancy, and by the time the results are confirmed the foetus could be 20 weeks, adding to the trauma of the decision-making process.
In 2008, Republican Vice-Presidential nominee Sarah Palin attracted controversy when she revealed that she had known that her youngest child, Trig, had Down's before he was born: some questioned why such a strong anti-abortionist had undergone a test that risked the life of her unborn child. The vast majority (over 90%) of women in the United States and the UK who test positive choose to terminate the pregnancy, causing anti-abortionists to decry what they see as eugenics still stalking the hospital corridors.
Here Comes the Science!
Down's Syndrome was first identified by John Langdon Down in 1866, with the genetics behind it first described by Jerome Lejeune and Patricia Jacobs, working independently in 1959.
I really wish that his name was Doctor Up so that today, Down Syndrome could be called 'UP' Syndrome instead. Then maybe people would begin with a better attitude towards us as they start to understand what we are all about and what we are really capable of doing.
– Annie Forts, motivational speaker and self-advocate for people with Down's syndrome
The human body is made up of different cells, whose production and output is controlled by genes. The genes control or influence many things such as physical appearance, the way the body grows, develops and ages, and its resistance to illness. Genes are grouped together in packs of 23 pairs called chromosomes. Down's occurs when there is an extra 21st chromosome, which happens as a result of nondisjunction4 at conception. The extra genetic material disrupts the normal course of development, causing the characteristic features of Down's syndrome.
There are three main types of Down's symdrome. Most cases are regular (also called free or standard) trisomy 21, meaning that every cell in the body has three copies of chromosome 21 instead of two. A small percentage of people with Down's (about 2%) have an extra copy of chromosome 21 in only some of the body's cells, a condition called Mosaic Down syndrome.
Down's syndrome also occurs when part of chromosome 21 becomes attached, or translocated to another chromosome. The 6% of Down's people to whom this applies have two of chromosome 21, plus triplication of chromosome 21 material attached to another chromosome. This is known as Translocation Down syndrome, and a rare type of translocation is the only form of Down's which is inherited.
The term originally coined by John Down was 'mongolism', but this usage is now viewed as both insulting and medically meaningless, and has not been used in medical science since the mid-1960s. However, some older people may still use it, even if it's not meant offensively. Other trisomies5 such as trisomy 18 (Edward's syndrome), and trisomy 13 (Patau's syndrome), are much rarer: fewer than 1 in 5,000 live births — the medical complications are so severe that 90% of children born with these conditions will not reach their first birthday.
The physical features of Down's include some or all of the following:
- Low-set almond-shaped eyes that slope upwards, with vertical skin folds (epicanthic folds) between the upper eyelids and the inner corner of the eye
- A small mouth, which may make the tongue seem overly large
- Flattening at the back of the head
- A flattened nose bridge
- Broad hands with a single crease across one or both palms (Simian crease)
- Floppiness due to poor muscle tone (hypotonia)
- Small, low-set ears
- Low birth weight and short stature
- Small white spots on the iris (Brushfield's spots)
Certain medical conditions which are found in all children have a higher incidence among those with Down's. Heart defects affect almost half, but most of these can be treated early with surgery. Eye and sight problems affect around half, and include long and short-sightedness, as well as cataracts and crossed eyes.
Over half have hearing difficulties, ranging from mild to complete deafness. This condition may need a hearing aid, cochlear implant or grommets, to improve the child's capability. Thyroid problems affect about 10%. Poor immunity is common, leading to a greater susceptibility to coughs, colds, and chest infections. The digestive system can cause problems.
Dementia sets in at an earlier age: four out of ten 50-59 year olds with Down's syndrome have dementia. Fertility is low: it is extremely rare in males, much reduced in females, and about half of the babies born to Down's mothers will have the condition themselves. Life expectancy is currently about 55 years. This has almost doubled since 1980, a laudable tribute to the advances in medical care, and more supportive and inclusive socialisation.